{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T07:30:36Z","timestamp":1762673436475},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":3264,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1995,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described familial cerebrovascular disorder shown to map to chromosome 19q12. Familial hemiplegic migraine has also been shown in some families to map close to the CADASIL locus. The fully developed CADASIL phenotype consists of recurrent strokes developing in the fourth decade, progressing to a pseudobulbar palsy, spastic quadriparesis, and subcortical dementia. In an Irish family 15 members were fully investigated by magnetic resonance scanning; 10 had typical magnetic resonance features of CADASIL. Five members of this family had familial hemiplegic migraine and 4 of these had magnetic resonance evidence of CADASIL. Two other members had migraine with and without aura as a presenting clinical symptom of CADASIL. This disorder has been shown by linkage analysis to map to the CADASIL locus at chromosome 19. The phenotype at presentation of CADASIL in this family was variable and age related and included familial hemiplegic migraine, migraine with and without aura, transient ischemic attacks, strokes, and spinal cord infarction. This family study increases our understanding of the spectrum of clinical manifestations of this underrecognized familial cerebrovascular disorder.<\/jats:p>","DOI":"10.1002\/ana.410380517","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:27:31Z","timestamp":1104596851000},"page":"817-824","source":"Crossref","is-referenced-by-count":65,"title":["Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL)"],"prefix":"10.1002","volume":"38","author":[{"given":"Michael","family":"Hutchinson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathon","family":"O'Riordan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Javed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Etain","family":"Quin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donal","family":"Macerlaine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Willcox","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nollaig","family":"Parfrey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamas G.","family":"Nagy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Tournier\u2010Lasserve","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(77)92576-4"},{"key":"e_1_2_1_3_2","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/BF00691704","article-title":"Hereditary multi\u2010infract dementia. Morphological and clinical studies of a new disease","volume":"39","author":"Sourander P","year":"1977","journal-title":"Acta Neuropathol (Berl)"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1159\/000116158"},{"key":"e_1_2_1_5_2","first-page":"376","article-title":"Demence sous\u2010corticale familiale avec leucoencephalopathie arteriopathique: observation clinicopathologique","volume":"147","author":"Davous P","year":"1991","journal-title":"Rev Neurol"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.22.10.1297"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.5.1015"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02226962"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/118.1.207"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.24.1.122"},{"key":"e_1_2_1_11_2","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/ng0393-256","article-title":"Cerebral autosomal arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12","volume":"3","author":"Tournier\u2010Lasserve E","year":"1993","journal-title":"Nature Genet"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.6.1086"},{"key":"e_1_2_1_13_2","first-page":"S30","article-title":"New phenotype of CADASIL with migraine as prominent clinical features","volume":"241","author":"Verin M","year":"1994","journal-title":"J Neurol"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0993-40"},{"issue":"7","key":"e_1_2_1_15_2","first-page":"19","article-title":"Headache Classification Committee of the International Headache Society. Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain","volume":"8","year":"1988","journal-title":"Cephalgia"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/359794a0"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90133-D"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1991.00530180087022"},{"key":"e_1_2_1_19_2","first-page":"165","article-title":"Familial unusual encephalopathy of Binswanger's type without hypertension in young adults","volume":"30","author":"Maeda S","year":"1976","journal-title":"Folio Psychiatry Neurol Jpn"},{"key":"e_1_2_1_20_2","first-page":"165","article-title":"Chronic progressive leukoencephalopathy with systemic arteriosclerosis in young adults","volume":"4","author":"Yokoi S","year":"1985","journal-title":"Clin Neuropathol"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410220202"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410180110"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1340"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410080319"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410380517","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410380517","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T02:14:39Z","timestamp":1698372879000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410380517"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,11]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1995,11]]}},"alternative-id":["10.1002\/ana.410380517"],"URL":"https:\/\/doi.org\/10.1002\/ana.410380517","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,11]]}}}